Browsing Journal article - Institute for Biomedicine by Title
Now showing items 136-155 of 422
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The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks.
(2019)The General Data Protection Regulation (GDPR) came into force in May 2018. The aspiration of providing for a high level of protection to individuals' personal data risked placing considerable constraints on scientific ... -
Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene
(2018)Caveolinopathies are a heterogeneous family of genetic pathologies arising from alterations of the caveolin-3 gene (CAV3), encoding for the isoform specifically constituting muscle caveolae. Here, by reprogramming peripheral ... -
Generation of Induced Pluripotent Stem Cells from Frozen Buffy Coats using Non-integrating Episomal Plasmids
(2015)Somatic cells can be reprogrammed into induced pluripotent stem cells (iPSCs) by forcing the expression of four transcription factors (Oct-4, Sox-2, Klf-4, and c-Myc), typically expressed by human embryonic stem cells ... -
Genes predict village of origin in rural Europe
(2010)The genetic structure of human populations is important in population genetics, forensics and medicine. Using genome-wide scans and individuals with all four grandparents born in the same settlement, we here demonstrate ... -
Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids
(2012)Omega-3 and omega-6 long-chain polyunsaturated fatty acids (LC-PUFAs) are essential for the development and function of the human brain. They can be obtained directly from food, e.g., fish, or synthesized from precursor ... -
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
(2018)High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in ... -
Genetic architecture of circulating lipid levels
(2011)Serum concentrations of low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TGs) and total cholesterol (TC) are important heritable risk factors for cardiovascular ... -
The genetic architecture of type 2 diabetes
(2016)The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified ... -
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
(2014)The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate ... -
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
(2016)Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular ... -
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease
(2012)Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously ... -
Genetic determinants of circulating sphingolipid concentrations in European populations
(2009)Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic ... -
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium
(2014)Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating ... -
Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms
(2006)Most of the inhabitants of South Tyrol in the eastern Italian Alps can be considered isolated populations because of their physical separation by mountain barriers and their sociocultural heritage. We analyzed the genetic ... -
Genetic studies of body mass index yield new insights for obesity biology
(2015)Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure ... -
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives
(2007)BACKGROUND: There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the ... -
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
(2011)Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or ≥90 mm Hg ... -
Genetic variants in RBFOX3 are associated with sleep latency
(2016)Time to fall asleep (sleep latency) is a major determinant of sleep quality. Chronic, long sleep latency is a major characteristic of sleep-onset insomnia and/or delayed sleep phase syndrome. In this study we aimed to ... -
Genetics of restless legs syndrome (RLS): State-of-theart and future directions
(2007)Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no ...